⚕️ Neurofibromatosis Awareness Month

🎗️Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis. In NF1 symptoms include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves, and scoliosis. In NF2 there may be hearing loss, cataracts at a young age, balance problems, flesh colored skin flaps, and muscle wasting. The tumors are generally non-cancerous.

The cause is a genetic mutation in certain genes. These can be inherited from a person's parents, or in about half of cases spontaneously occur during early development. The tumors involve supporting cells in the nervous system rather than the neurons. In NF1 the tumors are neurofibromas (tumors of the peripheral nerves), while in NF2 and schwannomatosis tumors of Schwann cells are more common. Diagnosis is typically based on the signs and symptoms and occasionally supported by genetic testing.

There is no known prevention or cure. Surgery may be done to remove tumors that are causing problems or have become cancerous. Radiation and chemotherapy may also be used if cancer occurs. A cochlear implant or auditory brainstem implant may help some who have hearing loss.

In the United States, about 1 in 3,500 people have NF1 and 1 in 25,000 have NF2. Males and females are affected equally frequently. In NF1, symptoms are often present at birth and otherwise develop before 10 years of age. While the condition typically worsens with time, most people with NF1 have a normal life expectancy. In NF2, symptoms may not become apparent until early adulthood. NF2 increases the risk of early death. Descriptions of the condition occur as far back as the 1st century.

🎗️Signs and symptoms

Neurofibromatosis (NF1) in early life may cause learning and behavior problems – about 60% of children who have NF1 have a mild form of difficulty in school. In terms of signs the individual might have are the following:

• Six or more light brown dermatological spots ("café au lait spots")
• At least two neurofibromas
• At least two growths on the eye's iris
• Abnormal growth of the spine (scoliosis)

🎗️Cause

Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop. If one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. The severity of the condition of the parent does not affect the child; the affected child may have mild NF1 even though inherited from a parent with a severe form of the disorder. The types of neurofibromatosis are:

• Neurofibromatosis type I, in which the nerve tissue grows tumors (neurofibromas) that may be benign, may cause serious damage by compressing nerves and other tissues.
• Neurofibromatosis type II, in which bilateral acoustic neuromas (tumors of the vestibulocochlear nerve or cranial nerve 8 (CN VIII) also known as schwannoma) develop, often leading to hearing loss.
• Schwannomatosis, in which painful schwannomas develop on spinal and peripheral nerves.

🎗️Pathophysiology

The neurofibromatosis are considered as RASopathies and as members of the neurocutaneous syndromes (phakomatoses).The diagnosis of neurofibromatosis is done via the following means:

• Radiograph
• MRI or CT scan
• EEG
• Slit-lamp examination
• Genetic testing
• Histology
• 
  

🎗️Treatment

Surgical removal of tumors is an option, however the risks involved should be assessed first.^[18] With regard to OPG (optic pathway gliomas), the preferred treatment is chemotherapy. However, radiotherapy isn't recommended in children who present with this disorder.^[19] It is recommended that children diagnosed with NF1 at an early age have an examination each year, which allows any potential growths or changes related to the disorder to be monitored.

🎗️Prognosis

In most cases, symptoms of NF1 are mild, and individuals live normal and productive lives. In some cases, however, NF1 can be severely debilitating and may cause cosmetic and psychological issues. The course of NF2 varies greatly among individuals. In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brain stem, can be life-threatening. Most individuals with schwannomatosis have significant pain. In some extreme cases the pain will be severe and disabling.

NF1 occurs in 1 in 3000 individuals and is equally prevalent among men and women. It is among the most common inherited nervous system disorders.^[21] Affected individuals have a 10- to 15-year reduction in life expectancy compared to the average person.

🎗️10 Symptoms of Neurofibromatosis

Neurofibromatosis is a genetic disorder that causes tumors to form anywhere in the nervous system and the skin. Diagnosis of the disease usually occurs in childhood or young adults. There are three different types of neurofibromatosis. Types 1 and 2 are hereditary. Symptoms of neurofibromatosis can be present at birth, or they may become evident early in childhood. Although neurofibromatosis is a multisystem disorder that requires management by a multidisciplinary team of health specialists, the dermatologist has the primary role in recognizing and differentiating NF from other conditions and suggesting appropriate referrals and management.

🎗️1. Cafe Au Lait Macules

Skin lesions have smooth borders and can be a range of colors from tan to dark brown. While many people may have these lesions, seeing more than six of them on a child can indicate NF1. On children, look for spots that are bigger than 5 mm at their widest point. On teenagers, look for spots larger than 15 mm.

🎗️2. Skinfold Freckling

Skinfold freckling is another important criterion for the diagnosis of NF1. It occurs between the ages of three and five in either the axilla and groin. They may also be on the neck, breast, around the lips, and in the trunk. The freckling is similar to that induced by sun exposure, but it occurs remarkably in covered areas.

🎗️3. Learning Disabilities

Half of the patients with NF1 have learning disabilities, and parents of children with this disease worry about their academic performance. Studies showed that children with NF1 struggle with math and reading, and they are more likely to be diagnosed with Attention-Deficit Hyperactivity Disorder. Early intervention can go a long way in helping kids with NF1.

🎗️4. Bone Anomalies

Bone anomalies, like a curved spine, is a common problem for those with neurofibromatosis. It occurs in 10 percent of patients, usually manifesting by age 10. If doctors find evidence of scoliosis, they may refer the child to orthopedics. Long bone deformity is usually manifest within the first year of life. The most affected bone is the tibia, which will bow in an anterior direction. Someone with NF1 may have short stature, a prominent forehead and brow, and a head circumference above average (macrocephaly).

🎗️5. Optic Gliomas

The optic glioma is a slow-growing tumor of the optic nerve, which is present in 15-20 percent of patients with NF1. It can manifest clinically with exophthalmos, which is an abnormal protrusion of the eyeball, a decreased vision, and precocious puberty (after age six for the latter). However, most children are diagnosed with optic glioma around age three.

🎗️6. Cutaneous Neurofibromas

The presence of neurofibromas is another classic manifestation of neurofibromatosis. Neurofibromas are tumors that are located anywhere on the body and have different shapes and sizes. Cutaneous tumors are dome-shaped, soft, fleshy, skin-colored or hyperpigmented, while subcutaneous tumors are firm and nodular. Usually, these tumors do not become apparent until puberty and may continue to grow in size and number throughout adulthood. Pregnancy is also another time associated with tumor growth acceleration.

🎗️7. Glomus Tumors

Glomus tumors originate from a specialized vascular structure involved in temperature regulation. They are most commonly seen in the subungual area of the fingers and appear as small-blue red papules or nodules. Glomus tumors are associated with marked pain and cold intolerance. Surgical removal of these tumors will eliminate the pain.

🎗️8. Schwannomatosis

A schwannomatosis is a benign nerve tumor that causes significant pain for the patient. Depending on the location of the tumor, it can cause numbness, weakness, and muscle loss. In fact, pain can be so debilitating that it may require surgical treatment or supervised pain management.

🎗️9. Hearing Loss

Hearing loss is common in some cases of neurofibromatosis. This is the result of slow-growing tumors in the nerves that transmit sound from the inner ears to the brain. The symptoms will appear in the early adult years and vary in intensity. The patient will complain of a gradual hearing loss, ringing in the ears, balance difficulties, and possibly headaches.

🎗️10. Itching

Itching is generally widespread in the skin and the tumors. Although the mechanism that causes it is uncertain, doctors believe that the production of histamine is to blame. The mast cells in the tumors produce itch-causing histamine.

There's a fb support group for those who have Neurofibromatosis, where you can share your experiences with others, and learn what other people are going through. A place to talk about things and feel comfortable with what you want to share.

https://www.facebook.com/Neurofibromatosis-Support-345030432837/

Blogger: Egypt Assanti

ESD Baroness

{aka} Big Sister Southern Heat 🎗️